DOCSLIB.ORG

Intoeing Gait in Children

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Intoeing Gait in Children Li et al REVIEW ARTICLES Intoeinggaitinchildren YHLi,JCYLeong Objective. To review the aetiology and management of intoeing. Data sources. Medline and non-Medline literature search, and personal experience. Study selection. Studies that provided evidence-based information about the aetiology and management of paediatric intoeing gait were selected. Data extraction. Data were extracted and reviewed independently by both authors. Data synthesis. An intoeing gait affects many children and, as with flexible flatfoot, bowleg, and knock-knee, it falls into the category of physiological problems that occur in normal children. The usual causes are excessive femoral anteversion, internal tibial torsion, and metatarsus adductus. Management is based on understanding the causes and the natural course of the condition and the effectiveness of various treatment modalities. Unfortunately, due to a poor understanding of the condition, intoeing is commonly overtreated with braces or special footwear. Conclusions. Intoeing is one of the most common conditions encountered in paediatric orthopaedic practice. It is important to make an early diagnosis of pathological causes of intoeing such as cerebral palsy and develop- mental dysplasia of the hips so that treatment can be commenced as soon as possible. HKMJ 1999;5:360-6 Key words: Child; Foot deformities, congenital; Gait; Hip joint/physiology; Movement Terminology demonstrate torsion. Tibial version or torsion is the angle measured between the transmalleolar axis and Rotation refers to the twist of the femur or the tibia the bicondylar axis of the proximal tibia at the knee. about the long axis of each bone. Rotation that is nor- mal in direction and magnitude is defined as ‘version’ The embryology of lower-extremity version and that which is abnormal is termed ‘torsion’. Further- more, ‘normal’ is defined as plus or minus two standard A basic knowledge of the embryological and foetal deviations from the mean.1 development of the musculoskeletal system is import- ant in the understanding of lower-extremity version. Rotation of a bone is determined by the angle The lower-extremity limb buds first appear as paddle- between reference axes at the proximal and distal ends shaped buds during the fifth to sixth weeks of gesta- of each bone. Rotation of the femur, for instance, is tion. The early limb bud continues its formation by the angle between the axis of the head/neck and the the migration and proliferation of the differentiating axis of the distal condyles at the most posterior points. mesenchymal tissues. By the end of the sixth week, If the angle between the proximal and distal axes is the limb buds have flattened and formed terminal hand positive, the femur is ‘anteverted’. If the angle between and foot plates and the early external form of the the proximal and the distal axes is negative, the femur limb. At approximately 7 weeks, the longitudinal axes is ‘retroverted’. If the angle is greater than two stand- of the upper and lower limb buds are parallel. The ard deviations from the mean, then the femur will pre-axial components face dorsally and the post-axial borders face ventrally. In this period, the position of Duchess of Kent Children’s Hospital, 12 Sandy Bay Road, Sandy the limb buds relative to the trunk change in a pre- Bay, Hong Kong YH Li, FRCS (Edin), FHKAM (Orthopaedic Surgery) determined manner not related to muscle activity or Department of Orthopaedic Surgery, The University of Hong Kong, inherent osseous torsion. The upper limb buds rotate Queen Mary Hospital, Pokfulam, Hong Kong externally and the lower buds internally, bringing JCY Leong, FRCS (Edin), FHKAM (Orthopaedic Surgery) the great toe to the midline from its initial post- Correspondence to: Dr YH Li axial position. Afterwards, mechanical intrauterine 360 HKMJ Vol 5 No 4 December 1999 Intoeing gait in children moulding of the lower limbs of the foetus takes the child’s present problem or fear that the current place, causing the femurs to rotate externally and the problem will persist and cause some long-term tibiae to do so internally.2-4 disability such as arthritis7,8 or make it difficult for the child to participate in sports or function normally? Femoral anteversion at birth is about 30 to 40°. Enquire about any family history of rotational prob- Because of the common intrauterine position of hip lems. Take a developmental history and ask about external rotation, the infant appears on examination to the nature of the disability such as tripping or falling. have more hip external rotation than internal rotation. Find out if the child prefers to sit on the floor in the This soft tissue external hip rotation contracture ‘W’ or reversed tailor position. decreases over the first year of life and the increased hip internal rotation expected from the femoral The physical examination anteversion starts to become apparent. There is a When evaluating a patient with a rotational abnormal- gradual decrease in femoral anteversion from 30 to 40° ity, begin by assessing the rotational profile. This at birth to the value of 10 to 15° by early adolescence, allows one to measure the severity of the rotational with most of this improvement occurring before 8 years problem. The rotational profile provides the informa- of age.5 tion needed to establish a diagnosis and to quantify the severity of the rotational problem present. In a computed tomography (CT) study of tibial torsion in the growing fetus, it was found that there Firstly, inspect the patient standing from the front. was an increase in external tibial torsion in the early When excessive femoral anteversion exists, the patel- stages of foetal life but that this gradually decreased lae face each other medially. Secondly, ask the child so that in the newborn, the tibial torsion was internal. to walk towards you and estimate the foot-progression After birth, the tibia rotates externally and the average angle (FPA)—the angular difference between the long version of the tibia at skeletal maturity is 15°.6 axis of the foot and the line of progression. Intoeing is denoted by a minus sign and out-toeing by a plus Causes of an intoeing gait sign. In a normal child, the FPA is +10° with a range from -3 to +20°. Thirdly, examine the child prone with In the infant, the most common cause is metatarsus the knees flexed 90°. To determine the amount of hip adductus. With this condition, the entire forefoot is rotation, allow both hips to fall into maximum inter- adducted at the tarsometatarsal level but the hindfoot nal and external rotation. The legs should be allowed is in its normal position. When present in the second to fall by gravity alone—do not use force. The amount year of life, intoeing is commonly due to internal of internal and external rotation of the hip should tibial torsion. After 3 years of age, this problem is normally be similar and the total arc should be about usually due to excessive femoral anteversion. When a 90°. Medial rotation more than 70° suggests a diagno- child toes-in severely, a combination of causes should sis of excessive femoral anteversion. It is considered be suspected. mild if the degree of internal rotation is 70 to 80° and the external rotation is 10 to 20°; moderate if internal Sometimes a rotational problem is a manifestation rotation is 80 to 90° and lateral rotation is 0 to 10°; of an underlying disorder such as cerebral palsy and and severe if the internal rotation of the hip is greater hip dysplasia. Before focusing on the rotational than 90° with no external rotation (Fig 1). problem, a physician must check that the rest of the musculoskeletal system is normal. Any clinical find- To determine the degree of tibial rotation, the thigh- ings such as abnormal muscle tone, gait abnormality, foot angle or the transmalleolar angle needs to be limitation of hip abduction, and leg length discrepancy estimated. The thigh-foot angle is the angular differ- should prompt a more intensive evaluation. ence between the axis of the foot and the axis of the thigh when the patient is in the prone position with Performing an evaluation the knees flexed 90° and the foot and ankle in neutral position. A negative value is given when the tibia is Taking a history rotated internally (internal tibial torsion) and a posi- Intoeing is extremely common in infants and children tive value given when the tibia is rotated externally and is a frequent cause of anxiety in parents. It is (external tibial torsion). In the infant, the thigh-foot important to identify the reason for the consultation angle is internal (negative) but it becomes progressively and what the parents’ concerns are; the parents’ external (positive) with increasing age. During child- concerns must be taken seriously. In addition, is it hood, the mean thigh-foot angle is +10° with a range HKMJ Vol 5 No 4 December 1999 361 Li et al 1a. 1b. Fig 2. A negative thigh-foot angle in a patient with internal tibial torsion The normal angle is about +10 to +15°. In this patient, the angle is -20° Imaging techniques used A physical examination usually provides sufficient information to formulate a treatment plan and further imaging is usually not required. There are, however, a number of imaging methods that can assess the amount of torsional deformity present in the bone. Imaging may need to be used in patients with hip dysplasia or cerebral palsy, or when significant Fig 1. Hip rotation in the prone position in a patient with excessive femoral anteversion rotational deformity does not resolve and corrective Normally, the internal and external rotation angles are more or surgery is needed.
Load more

Recommended publications
  • Supplemental Information
    REVIEW ARTICLE Supplemental Information SEARCH STRATEGIES 7. exp Congenital Abnormalities/ or remifentanil or sufentanil or 8. (defect or cleft or heart defect tapentadol or tramadol or heroin Database: Ovid MEDLINE(R) In- or nalmefene or naloxone or Process and Other Nonindexed or gastroschisis or cryptorchidism or atresia or congenital or clubfoot naltrexone).mp. Citations and Ovid MEDLINE(R), or renal or craniosynostosis or 4. 1 or 2 or 3 1946 to Present hypospadias or malformation or 5. exp pregnancy/or exp pregnancy spina bifida or neural tube defect). outcome/ mp. 1. exp Analgesics, Opioid/ 6. exp teratogenic agent/ 9. 5 or 6 or 7 or 8 2. (opioid* or opiate*).mp. 7. exp congenital disorder/ 10. 4 and 9 3. (alfentanil or alphaprodine or 11. Limit 10 to (English language and 8. (defect or cleft or heart defect buprenorphine or butorphanol humans) or gastroschisis or cryptorchidism or codeine or dezocine or or atresia or congenital or clubfoot dihydrocodeine or fentanyl or Database: Ovid Embase, 1988– or renal or craniosynostosis or hydrocodone or hydromorphone 2016, Week 7 hypospadias or malformation or or levomethadyl or levorphanol spina bifida or neural tube defect). or meperidine or methadone or mp. 1. exp opiate/ morphine or nalbuphine or opium 9. 5 or 6 or 7 or 8 or oxycodone or oxymorphone 2. (opioid* or opiate*).mp. or pentazocine or propoxyphene 10. 4 and 9 3. (alfentanil or alphaprodine or or remifentanil or sufentanil or buprenorphine or butorphanol 11. Limit 10 to (human and English tapentadol or tramadol or heroin or codeine or dezocine or language and (article or book or or nalmefene or naloxone or book series or conference paper dihydrocodeine or fentanyl or “ ” naltrexone).mp.
    [Show full text]
  • Treatment and Outcomes of Arthrogryposis in the Lower Extremity
    Received: 25 June 2019 Revised: 31 July 2019 Accepted: 1 August 2019 DOI: 10.1002/ajmg.c.31734 RESEARCH ARTICLE Treatment and outcomes of arthrogryposis in the lower extremity Reggie C. Hamdy1,2 | Harold van Bosse3 | Haluk Altiok4 | Khaled Abu-Dalu5 | Pavel Kotlarsky5 | Alicja Fafara6,7 | Mark Eidelman5 1Shriners Hospitals for Children, Montreal, Québec, Canada Abstract 2Department of Pediatric Orthopaedic In this multiauthored article, the management of lower limb deformities in children Surgery, Faculty of Medicine, McGill with arthrogryposis (specifically Amyoplasia) is discussed. Separate sections address University, Montreal, Québec, Canada 3Shriners Hospitals for Children, Philadelphia, various hip, knee, foot, and ankle issues as well as orthotic treatment and functional Pennsylvania outcomes. The importance of very early and aggressive management of these defor- 4 Shriners Hospitals for Children, Chicago, mities in the form of intensive physiotherapy (with its various modalities) and bracing Illinois is emphasized. Surgical techniques commonly used in the management of these con- 5Pediatric Orthopedics, Technion Faculty of Medicine, Ruth Children's Hospital, Haifa, ditions are outlined. The central role of a multidisciplinary approach involving all Israel stakeholders, especially the families, is also discussed. Furthermore, the key role of 6Faculty of Health Science, Institute of Physiotherapy, Jagiellonian University Medical functional outcome tools, specifically patient reported outcomes, in the continuous College, Krakow, Poland monitoring and evaluation of these deformities is addressed. Children with 7 Arthrogryposis Treatment Centre, University arthrogryposis present multiple problems that necessitate a multidisciplinary Children's Hospital, Krakow, Poland approach. Specific guidelines are necessary in order to inform patients, families, and Correspondence health care givers on the best approach to address these complex conditions Reggie C.
    [Show full text]
  • The Orthopaedic Management of Arthrogryposis Multiplex Congenita
    Current Concept Review The Orthopaedic Management of Arthrogryposis Multiplex Congenita Harold J. P. van Bosse, MD and Dan A. Zlotolow, MD Shriners Hospital for Children, Philadelphia, PA Abstract: Arthrogryposis multiplex congenita (AMC) describes a baby born with multiple joint contractures that results from fetal akinesia with at least 400 different causes. The most common forms of AMC are amyoplasia (classic ar- throgryposis) and the distal arthrogryposes. Over the past two decades, the orthopaedic treatment of children with AMC has evolved with a better appreciation of the natural history. Most adults with arthrogryposis are ambulatory, but less than half are fully independent in self-care and most are limited by upper extremity dysfunction. Chronic and epi- sodic pain in adulthood—particularly of the foot and back—is frequent, limiting both ambulation and standing. To improve upon the natural history, upper extremity treatments have advanced to improve elbow motion and wrist and thumb positioning. Attempts to improve the ambulatory ability and decrease future pain include correction of hip and knee contractures and emphasizing casting treatments of foot deformities. Pediatric patients with arthrogryposis re- quire a careful evaluation, with both a physical examination and an assessment of needs to direct their treatment. Fur- ther outcomes studies are needed to continue to refine procedures and define the appropriate candidates. Key Concepts: • Arthrogryposis multiplex congenita (AMC) is a term that describes a baby born with multiple joint contractures. Amyoplasia is the most common form of AMC, accounting for one-third to one-half of all cases, with the distal arthrogryposes as the second largest AMC type.
    [Show full text]
  • Hypermobility Syndrome
    EDS and TOMORROW • NO financial disclosures • Currently at Cincinnati Children’s Hospital • As of 9/1/12, will be at Lutheran General Hospital in Chicago • Also serve on the Board of Directors of the Ehlers-Danlos National Foundation (all Directors are volunteers) • Ehlers-Danlos syndrome(s) • A group of inherited (genetic) disorders of connective tissue • Named after Edvard Ehlers of Denmark and Henri- Alexandre Danlos of France Villefranche 1997 Berlin 1988 Classical Type Gravis (Type I) Mitis (Type II) Hypermobile Type Hypermobile (Type III) Vascular Type Arterial-ecchymotic (Type IV) Kyphoscoliosis Type Ocular-Scoliotic (Type VI) Arthrochalasia Type Arthrochalasia (Type VIIA, B) Dermatosporaxis Type Dermatosporaxis (Type VIIC ) 2012? • X-Linked EDS (EDS Type V) • Periodontitis type (EDS Type VIII) • Familial Hypermobility Syndrome (EDS Type XI) • Benign Joint Hypermobility Syndrome • Hypermobility Syndrome • Progeroid EDS • Marfanoid habitus with joint laxity • Unspecified Forms • Brittle cornea syndrome • PRDM5 • ZNF469 • Spondylocheiro dysplastic • Musculocontractural/adducted thumb clubfoot/Kosho • D4ST1 deficient EDS • Tenascin-X deficiency EDS Type Genetic Defect Inheritance Classical Type V collagen (60%) Dominant Other? Hypermobile Largely unknown Dominant Vascular Type III collagen Dominant Kyphoscoliosis Lysyl hydroxylase (PLOD1) Recessive Arthrochalasia Type I collagen Dominant Dermatosporaxis ADAMTS2 Recessive Joint Hypermobility 1. Passive dorsiflexion of 5th digit to or beyond 90° 2. Passive flexion of thumbs to the forearm 3. Hyperextension of the elbows beyond 10° 1. >10° in females 2. >0° in males 4. Hyperextension of the knees beyond 10° 1. Some knee laxity is normal 2. Sometimes difficult to understand posture- forward flexion of the hips usually helps 5. Forward flexion of the trunk with knees fully extended, palms resting on floor 1.
    [Show full text]
  • Escobar Syndrome Associated with Spine and Orthopedic Pathologies
    tics: Cu ne rr e en G t y R r e a Balioglu, Hereditary Genet 2015, 4:2 t s i e d a e r r c DOI: 10.4172/2161-1041.1000145 e h H Hereditary Genetics ISSN: 2161-1041 Case Report Open Access Escobar Syndrome Associated with Spine and Orthopedic Pathologies: Case Reports and Literature Review Balioglu MB* Metin Sabanci Baltalimani Bone Disease Education and Research Hospital, Istanbul, Turkey Abstract Escobar syndrome (ES) is associated with a web across every flexion crease in the extremities (most notably the popliteal space) and other structural anomalies such as a vertical talus, clubfoot, thoracic kyphoscoliosis and severe restrictive lung disease. In our study, we evaluated 3 patients diagnosed with multiple pterygium syndrome (MPS) type Escobar. The purpose of this study was to assess the abnormalities of the vertebrae and concomitant orthopedic pathologies. Two male patients (17 and 20-year-old siblings) and one female patient (9 year-old) were diagnosed with ES by genetic analysis. Patients had been diagnosed with kyphosis and progressive scoliosis (except one), high-set palate, ptosis, low-set ears, arachnodactyly, craniofacial dysmorphism, mild deafness, clubfoot, hip luxation, and joint contractures. Patients received operations for dislocation of the hip, clubfoot correction (except the female patient), and contractures of the knee and ankle. Furthermore, patients also underwent surgery for ptosis and inguinal hernias (except the female patient). One male patient received posterior vertebral instrumentation and fusion for a progressive spine deformity. Spinal and orthopedic pathologies commonly occur in patients with ES and scoliosis, and kyphosis may progress considerably over time.
    [Show full text]
  • FLEXOR TENOTOMY: a Simplified Technique
    CHAPTER 1 FLEXOR TENOTOMY: A Simplified Technique Mickey D. Stapp, DPM Craig Camasta, DPM INTRODUCTION The key to choosing this procedure is that the digital deformity must be flexible or semi-rigid at the interpha - Tenotomies have been performed in foot and ankle langeal joint level and no contracture or a reducible surgeries for many years. Traditionally, open tenotomies deformity at the metatarsophalangeal joint level. This were performed alone, in significant tendon contractures procedure cannot serve as an alternative for an arthrodesis without osseous involvement, or in combination with or arthroplasty of the digit or a full sequential release at the osseous surgery when osseous changes were also present. metatarsophalangeal joint. A percutaneous tenotomy for Many foot and ankle surgeons have understood the flexible digital deformities would be rarely indicated for importance of tenotomies in successful digital surgeries. 1-4 multiple adjacent digits. It is most often utilized on third McGowan may have been first to describe a minimally and fourth toes. invasive technique for tenotomies. 5 The lesion pattern, hyperkeratotic, preulcerative, or Surgeons searching for less invasive procedures to full ulcer, must be taken into consideration. The majority address tendon pathology began utilizing percutaneous of lesions best amenable to this procedure are lesions tenotomies for a multitude of various foot and ankle located at the distal aspect of the digit. This procedure deformities. The vast majority of these have been described provides a simplified technique to eliminate painful distal for clubfoot deformities. 6-8 Prior to the use of percutaneous clavi or recurring ulcerative lesions (Figure 1). tenotomies in clubfoot surgery, this technique was described for various Achilles tendonopathies.
    [Show full text]
  • Equinus Deformity in the Pediatric Patient: Causes, Evaluation, and Management
    Equinus Deformity in the Pediatric Patient: Causes, Evaluation, and Management a,b,c Monique C. Gourdine-Shaw, DPM, LCDR, MSC, USN , c, c Bradley M. Lamm, DPM *, John E. Herzenberg, MD, FRCSC , d,e Anil Bhave, PT KEYWORDS Equinus Pediatric External fixation Achilles tendon lengthening Gastrocnemius recession Tendo-Achillis lengthening Different body and limb segments grow at different rates, inducing varying muscle tensions during growth.1 In addition, boys and girls grow at different rates.1 The rate of growth for girls spikes at ages 5, 7, 10, and 13 years.1 The estrogen-induced pubertal growth spurt in girls is one of the earliest manifestations of puberty. Growth of the legs and feet accelerates first, so that many girls have longer legs in proportion to their torso during the first year of puberty. The overall rate of growth tends to reach a peak velocity (as much as 7.5 to 10 cm) midway between thelarche and menarche and declines by the time menarche occurs.1 In the 2 years after menarche, most girls grow approximately 5 cm before growth ceases at maximal adult height.1 The rate of growth for boys spikes at ages 6, 11, and 14 years.1 Compared with girls’ early growth spurt, growth accelerates more slowly in boys and lasts longer, resulting in taller adult stature among men than women (on average, approximately 10 cm).1 The difference is attributed to the much greater potency of estradiol compared with testosterone in Two authors (BML and JEH) host an international teaching conference supported by Smith & Nephew.
    [Show full text]
  • PE491 Clubfoot Correction
    Clubfoot Correction Using casting followed by shoes on a bar (the Ponseti method) The results of treating a child with clubfoot using the Ponseti method are very good. This involves stretching casts to correct the deformity, followed by shoes on a bar to hold the correction. What is the cause Clubfoot is the most common bone and joint deformity in babies. One out of of clubfoot? 1,000 babies is born with a clubfoot. Clubfoot is primarily a genetic condition, but other factors contribute to its occurrence. If your baby is born with a clubfoot you should know it was not caused by anything you did or did not do. What is the Ponseti The Ponseti method is a safe, effective treatment for the correction of method for the clubfoot that reduces the need for extensive surgery. The likely course of treatment for your child is these three steps in this order: treatment of clubfoot? 1. Casting (with foot stretching) 2. Tenotomy – cutting of the Achilles (heel) tendon 3. Bracing with special shoes on a bar Treatment starts when your baby is about 1 week old. The foot is gently stretched and manipulated for about 1 minute. After the ligaments and tendons of the foot are stretched, a long leg soft fiberglass cast is put on. This process will be repeated every week until the foot has been corrected. Most feet will need the Achilles tendon cut. Your child will then wear shoes on a bar to hold the correction. How long will the The initial correction including tenotomy takes about 2 to 3 months.
    [Show full text]
  • Complications Related to Specific Diagnoses Syndromes, Dysplasia
    Complications Related to Specific Diagnoses Syndromes, Dysplasia Paul D Sponseller MD Johns Hopkins Medical Institutions Baltimore, MD Overview • Common Themes • Marfan Syndrome •NF1 • Skeletal Dysplasia •NM • Complications Approach to Syndromes -and systemic diagnoses • Idiopathic Deformity: – Established patterns – Proven techniques • Syndromes have opposite properties – Unique problems – Step back •Get help!! Resources • OMIM (Online Mendelian Inheritance in Man) – NLM feature – 18,000 entries – Searchable by feature (i.e., pectus) + combinations (pectus AND scoliosis AND vertical talus) • Pub Med: Search individual diagnosis if known • Your friendly local geneticist – Dx & Management Common Themes: Examine Entire Spine (C,T,L) • Categories of Spinal Problems – Instability (C1-2, T12-L1) – Deformity • Kyphosis (C, T, L) • Scoliosis – Stenosis • Apply to Cervical, thoracic, lumbar Common Themes - General • Casting, Bracing rarely helps deformity – Marfan syndrome 17% efficacy • Exceptions • Use only in small, flexible curves – If not a burden Common Spinal Themes • Failure of fixation • Adding-on Common Themes- preop • Consider Spine Deformity in context of total Disability – Hurler syndrome: life expectancy < 20 yrs – Dysraphism: Infection, pressure sores, neuro deficit question benefit – Help FAMILY make cost-benefit analysis • Each family sees it differently Common Themes- preop MRI, CT • Usually high yield in syndromes – Dural ectasia – Cord size, location – Stenosis • When? – Preop or if findings dictate Common Themes -Medical Comorbidities
    [Show full text]
  • A Parents' Guide to Clubfoot and Its
    A Parents’ Guide to Clubfoot and its treatment using the Ponseti Method 1.800.461.3639 • www.whenithurtstomove.org Table of Contents Dedication and Introduction ...............................................................................2 About Dr. Ignacio Ponseti and his Method.........................................................3 Understanding Clubfoot ......................................................................................4 Clubfoot Treatment Overview .............................................................................6 Clubfoot Treatment Timeline...............................................................................8 Your Health Care Team ........................................................................................9 Your First Appointment......................................................................................10 Straightening the Foot: Casting ........................................................................11 When to Seek Medical Attention ......................................................................13 Preventing Relapse: Bracing and Surveillance ..................................................16 Exercise and Physiotherapy................................................................................21 Parent Stories......................................................................................................22 Frequently Asked Questions ..............................................................................24 Famous People With Clubfeet
    [Show full text]
  • EUROCAT Syndrome Guide
    JRC - Central Registry european surveillance of congenital anomalies EUROCAT Syndrome Guide Definition and Coding of Syndromes Version July 2017 Revised in 2016 by Ingeborg Barisic, approved by the Coding & Classification Committee in 2017: Ester Garne, Diana Wellesley, David Tucker, Jorieke Bergman and Ingeborg Barisic Revised 2008 by Ingeborg Barisic, Helen Dolk and Ester Garne and discussed and approved by the Coding & Classification Committee 2008: Elisa Calzolari, Diana Wellesley, David Tucker, Ingeborg Barisic, Ester Garne The list of syndromes contained in the previous EUROCAT “Guide to the Coding of Eponyms and Syndromes” (Josephine Weatherall, 1979) was revised by Ingeborg Barisic, Helen Dolk, Ester Garne, Claude Stoll and Diana Wellesley at a meeting in London in November 2003. Approved by the members EUROCAT Coding & Classification Committee 2004: Ingeborg Barisic, Elisa Calzolari, Ester Garne, Annukka Ritvanen, Claude Stoll, Diana Wellesley 1 TABLE OF CONTENTS Introduction and Definitions 6 Coding Notes and Explanation of Guide 10 List of conditions to be coded in the syndrome field 13 List of conditions which should not be coded as syndromes 14 Syndromes – monogenic or unknown etiology Aarskog syndrome 18 Acrocephalopolysyndactyly (all types) 19 Alagille syndrome 20 Alport syndrome 21 Angelman syndrome 22 Aniridia-Wilms tumor syndrome, WAGR 23 Apert syndrome 24 Bardet-Biedl syndrome 25 Beckwith-Wiedemann syndrome (EMG syndrome) 26 Blepharophimosis-ptosis syndrome 28 Branchiootorenal syndrome (Melnick-Fraser syndrome) 29 CHARGE
    [Show full text]
  • Campomelic Dysplasia
    Campomelic Dysplasia Overview Campomelic dysplasia is a rare form of bent-bone skeletal dysplasia that affects an estimated 1 in 40,000-200,000 people. It is complicated by respiratory issues and has therefore historically been considered a lethal disease, with most individuals not surviving past infancy. With proper medical care and guidance, campomelic dysplasia can be managed, although not without lasting orthopaedic and miscellaneous concerns. Campomelic dysplasia may be detecting using radiological techniques, physical exams and genetic testing. Clinical features include underdevelopment of the jaw, cleft palate, clubfoot, spine deformities and leg alignment issues. Treatment of symptoms may include monitoring and surgery by doctors who specialize in skeletal dysplasias. Heredity and genetics Campomelic dysplasia is caused by mutations in the SOX9 gene. This gene codes for a transcription factor — or protein — that attaches to genes to help them be expressed, particularly those involved in development of the skeleton and reproductive system. Under normal circumstances, there are two functioning copies of SOX9. Campomelic dysplasia occurs when one copy of the gene becomes defective — either through a point mutation on or near the gene, rearrangement of the chromosome or when the chromosome is deleted. Campomelic dysplasia tends to be less severe when the mutation involves a chromosomal abnormality instead of direct mutations of SOX9. Most cases of campomelic dysplasia happen from spontaneous mutations during fetal development. However, the disease can be inherited in an autosomal dominant fashion, meaning one copy of the defective gene is sufficient to cause the disease in the offspring. If an affected individual survives past reproductive age, they have a 50 percent chance of passing on the mutation to their child.
    [Show full text]